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Cellosaurus KMUGMCi008-A (CVCL_D6PT)

[Text version]
Cell line name KMUGMCi008-A
Synonyms KN695
Accession CVCL_D6PT
Resource Identification Initiative To cite this cell line use: KMUGMCi008-A (RRID:CVCL_D6PT)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 17582; KAT6B; Simple; p.Gln1737Hisfs*41 (c.5201_5210dupTGCTGCAGCA); ClinVar=VCV000039002; Zygosity=Heterozygous; Note=De novo mutation (hPSCreg=KMUGMCi008-A).
Disease Ohdo syndrome, SBBYS variant (NCIt: C206524)
Blepharophimosis-intellectual disability syndrome, SBBYS type (ORDO: Orphanet_3047)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; KMUGMCi008-A
Biological sample resources BioSamples; SAMEA115043950
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1